L16F (p.Leu16Phe) variant of NRXN1 (Neurexin-1)
L16F (p.Leu16Phe) in NRXN1 (Neurexin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
L16F (p.Leu16Phe) variant details
- p.Leu16Phe
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.45
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available